RGD:401904892 Rat Genome Database

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Variant: RGD:401904892 -  Homo sapiens

RGD ID: 401904892
ClinVar ID: CV2821833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-7  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,020,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
NM_001272037.1:c.-122-32773G>A
NM_144991.2:c.83-32773G>A
NC_000021.8:g.46020662C>T
 01/01/2023 likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-7
Accession:NM_198689
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSDLSYGSRVCLPGSCDSCSDSWQVDDCPESCCEPPC*APSCCAPAPCLSLVCTPVSRVSSPCCPVTCEPS
PCQSGCTSSCTPSCCQQSSCQLACCASSPCQQACCMPVCCKTVCCKPVYCVPVCSGDSSCCQQSSCQSACCTSSPCQQAC
CVPICCKPVCSGISSSCCQQSSCVSCVSSPCCQAVCEPSPCQSGCISSCTPSCCQQSSCQPACCTSSPCQQACCVPVCCK
PVCCVPTCSDDSGSCCQPACCTSSQSQQGCCVPVCCKPVCCVPVCSGASSSCCQQSSCQPACCTTSCCRPSSSVSLLCRP
VCRPTCCVPVPSCCAPTSSCQASCCRPASCVSLLCRPACSRPACCGPTSTQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003431562 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KRTAP10-7 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR